Associated Papers
Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese Patients.
Ou S et al.
Molecular Genetics & Genomic Medicine, 2026
Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
Ibrahim AA et al.
Bmc Medical Genomics, 2025
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.
Bosch E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy.
Yi S et al.
Journal of Molecular Neuroscience : Mn, 2022
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K et al.
American Journal of Human Genetics, 2019
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Martínez F et al.
Journal of Medical Genetics, 2017
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